YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
The Journal Of Clinical Investigation
De Franco, Elisa E; Lytrivi, Maria M; Ibrahim, Hazem H; Montaser, Hossam H; Wakeling, Matthew N MN; Fantuzzi, Federica F; Patel, Kashyap K; Demarez, Céline C; Cai, Ying Y; Igoillo-Esteve, Mariana M; Cosentino, Cristina C; Lithovius, Väinö V; Vihinen, Helena H; Jokitalo, Eija E; Laver, Thomas W TW; Johnson, Matthew B MB; Sawatani, Toshiaki T; Shakeri, Hadis H; Pachera, Nathalie N; Haliloglu, Belma B; Ozbek, Mehmet Nuri MN; Unal, Edip E; Yıldırım, Ruken R; Godbole, Tushar T; Yildiz, Melek M; Aydin, Banu B; Bilheu, Angeline A; Suzuki, Ikuo I; Flanagan, Sarah E SE; Vanderhaeghen, Pierre P; Senée, Valérie V; Julier, Cécile C; Marchetti, Piero P; Eizirik, Decio L DL; Ellard, Sian S; Saarimäki-Vire, Jonna J; Otonkoski, Timo T; Cnop, Miriam M; Hattersley, Andrew T AT
Publication Date: 2020-12-01
Variant appearance in text: ENG: 392C>T; Pro131Leu
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
International Journal Of Molecular Sciences
Scimone, Concetta C; Granata, Francesca F; Longo, Marcello M; Mormina, Enricomaria E; Turiaco, Cristina C; Caragliano, Antonio A AA; Donato, Luigi L; Sidoti, Antonina A; D'Angelo, Rosalia R
Publication Date: 2020-06-17
Variant appearance in text: ENG: 392C>T; Pro131Leu; rs139398993
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: ENG: 392C>T; P131L; rs139398993
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: ENG: P131L; rs139398993
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.
Bmc Medical Genetics
Sadick, Haneen H; Hage, Johanna J; Goessler, Ulrich U; Stern-Straeter, Jens J; Riedel, Frank F; Hoermann, Karl K; Bugert, Peter P
Publication Date: 2009-06-09
Variant appearance in text: ENG: 392C>T; Pro131Leu
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Bmc Medical Genetics
Fontalba, Ana A; Fernandez-L, Africa A; García-Alegria, Eva E; Albiñana, Virginia V; Garrido-Martin, Eva M EM; Blanco, Francisco J FJ; Zarrabeitia, Roberto R; Perez-Molino, Alfonso A; Bernabeu-Herrero, Maria E ME; Ojeda, Maria-Luisa ML; Fernandez-Luna, Jose L JL; Bernabeu, Carmelo C; Botella, Luisa M LM